一种新型异质性致病性AIRE变体,引起自身免疫,但不引起感染易感性
Mounavi Vemula1, Bergithe E Oftedal2, Dorsa Iraji2
1Queensland Paediatric Immunology & Allergy Service, Queensland Children's Hospital, South Brisbane, Australia.
概括
一种新的异质合体AIRE变体,AIRE^C337F,导致主导负效应,扩大了自身免疫多细胞膜病变 - 候选症 - 皮肤外 (APECED) 的表型. 这一发现强调了对未知意义的变异的功能验证的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 内分泌学 在内分泌学.
背景情况:
- 自体免疫多发性肌病 - 候选症 - 皮肤外 (APECED) 通常是由双性AIRE变体引起的.
- 单基AIRE变体可以通过负主导性引起自身免疫.
研究的目的:
- 为了识别和表征一种新型异质合体AIRE变异体.
- 扩大对APECED表型和遗传基础的理解.
主要方法:
- 受影响个体的基因测序.
- 对AIRE^C337F变种的功能研究.
- 免疫学分析,包括自身抗体检测.
主要成果:
- 在三名患有类似APECED症状的个体中发现了一种新型异质合体AIRE变体 (c.1010G>T,p.Cys337Phe).
- AIRE^C337F对野生类型的AIRE表现出功能丧失和主导负面影响.
- 患者有针对I型IFN的自身抗体,这与没有候群病相关.
结论:
- 这项研究确定了一种新型的致病性异合体AIRE变体,扩大了自体主导APECED的表型.
- 功能验证对于解释未知意义的变异至关重要,特别是在多样化的群体中.
相关概念视频
Histone Variants at the Centromere
5.0K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.0K
Magnetic Susceptibility and Permeability
2.4K
In linear magnetic materials, like paramagnets and diamagnets, magnetization is proportional to the magnetic field intensity. The constant of proportionality, a dimensionless number, is called magnetic susceptibility. The value of the susceptibility depends on the type of material.
When diamagnetic materials are placed under an external magnetic field, the moments opposite to the field are induced. Hence, the susceptibility for diamagnets has a minimal negative value of 10-5–10-6. Since...
When diamagnetic materials are placed under an external magnetic field, the moments opposite to the field are induced. Hence, the susceptibility for diamagnets has a minimal negative value of 10-5–10-6. Since...
2.4K
Autoimmune Disorders
1.7K
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
1.7K
Susceptibility, Permittivity and Dielectric Constant
2.8K
When placed in an external electric field, a dielectric material gets polarized. The charge density in the dielectric material is given by the sum of the bound and free charge densities, while the total charge density can also be written in terms of the total electric field. The bound charge density can be measured in terms of polarization, leading to the relationship between electric displacement and polarization.
2.8K
Air-entraining Agents
270
Air-entraining agents improve the durability and workability of concrete in climates with frequent freezing and thawing. These agents prevent cracks by introducing small air bubbles into the mix, creating spaces accommodating water expansion when temperatures drop. The air-entraining agents lower the surface tension of water, forming stable, small air bubbles. This method is more effective than having accidental large voids, as the intentional, smaller, and evenly distributed air voids improve...
270
Effects of Air-entrainment in Concrete
378
Air entrainment in concrete significantly enhances the material's durability, especially in environments subjected to freeze-thaw cycles. Introducing small air bubbles into the concrete mix acts as internal voids that accommodate the expansion of water when it freezes, thereby alleviating internal stress and preventing structural cracks. This function is crucial in climates with significant freezing and thawing, as it protects the concrete from repeated stresses that could lead to premature...
378


